Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1

Description

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

Clinical Features

Top most frequent phenotypes and symptoms related to Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Ptosis
  • Low-set ears
  • Cognitive impairment
  • Feeding difficulties

And another 35 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1 Is also known as tosti syndrome, nslh.

Researches and researchers

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Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1 Recommended genes panels

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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